Distal Anoctaminopathy
Description
Distal anoctaminopathy is a rare, autosomal recessive distal myopathy characterized by early adult-onset, slowly progressive, often asymmetrical, lower limb muscle weakness initially affecting the calves (with relative anterior muscle sparing) and later proximal muscle involvement, as well as highly elevated creatine kinase (CK) serum levels.
Clinical Features
Top most frequent phenotypes and symptoms related to Distal Anoctaminopathy
- Muscle weakness
- Myopathy
- Elevated serum creatine phosphokinase
- Proximal muscle weakness
- Myalgia
- Distal muscle weakness
- Muscular dystrophy
- Limb muscle weakness
- Lower limb muscle weakness
- Waddling gait
And another 5 symptoms. If you need more information about this disease we can help you.
Incidence and onset information
— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)— No data available about the known clinical features onset.
Alternative names
Distal Anoctaminopathy Is also known as miyoshi muscular dystrophy type 3, mmd3, miyoshi myopathy 3.
Researches and researchers
Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.Distal Anoctaminopathy Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
Distal Myopathy Advanced Sequencing Evaluation.
By Athena Diagnostics Inc (United States).
TIA1, MYOT, TTN, VCP, CAV3, LDB3, KLHL9, GNE, CRYAB, ANO5, DES, DNM2, DYSF, FLNC, MATR3, MYH7, NEB
Specificity
6 %
Genes
100 % |
Limb Girdle Muscular Dystrophy Advanced Evaluation.
By Athena Diagnostics Inc (United States).
SGCA, SGCB, SGCD, SGCG, TCAP, MYOT, TTN, CAPN3, DNAJB6, CAV3, TRIM32, FKRP, POMGNT1, POMT2, TRAPPC11, DAG1, ANO5, DES, DYSF, FKTN , (...)
View the complete list with 3 more genes
Specificity
5 %
Genes
100 % |
Muscular Dystrophy Advanced Evaluation.
By Athena Diagnostics Inc (United States).
SGCA, SGCB, SGCD, SGCG, TCAP, MYOT, TTN, CCDC78, CAPN3, DNAJB6, CAV3, TRIM32, SYNE2, SYNE1, FKRP, POMGNT1, POMT2, TRAPPC11, DAG1, ANO5 , (...)
View the complete list with 13 more genes
Specificity
4 %
Genes
100 % |
Neuromuscular Disorders Panel.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
RYR1, BIN1, SCN4A, SGCA, SGCB, SGCD, SGCE, SGCG, SLC25A4, SUCLA2, SUCLG1, TWNK, TCAP, TIA1, TK2, TNNI2, TNNT1, TPM2, TPM3, MYOT , (...)
View the complete list with 124 more genes
Specificity
1 %
Genes
100 % |
NGS Rhabdomyolysis and Metabolic Myopathies Panel.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
RYR1, SCN4A, SLC16A1, SUCLA2, TWNK, TK2, TSFM, LPIN1, SLC25A20, CASQ1, CAV3, RRM2B, FKRP, CPT2, SIL1, CTDP1, ANO5, TSEN54, DGUOK, DMD , (...)
View the complete list with 27 more genes
Specificity
3 %
Genes
100 % |
NGS Rhabdomyolysis and Metabolic Myopathies Panel.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
RYR1, SCN4A, SLC16A1, SUCLA2, TWNK, TK2, TSFM, LPIN1, SLC25A20, CASQ1, CAV3, RRM2B, FKRP, CPT2, SIL1, CTDP1, ANO5, TSEN54, DGUOK, DMD , (...)
View the complete list with 27 more genes
Specificity
3 %
Genes
100 % |
Comprehensive Neuromuscular Panel.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).
RYR1, RYR2, BIN1, SCN4A, SGCA, SGCB, SGCD, SGCE, SGCG, TCAP, TNNI2, TNNT1, TPM2, TPM3, MYOT, TTN, VCP, VRK1, ACTA1, CAPN3 , (...)
View the complete list with 59 more genes
Specificity
2 %
Genes
100 % |
Limb-Girdle Muscular Dystrophy.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).
SGCA, SGCB, SGCD, SGCG, TCAP, MYOT, TTN, VCP, CAPN3, CAV3, TRIM32, SYNE2, SYNE1, FKRP, POMGNT1, POMT2, COL6A1, COL6A2, COL6A3, GNE , (...)
View the complete list with 14 more genes
Specificity
3 %
Genes
100 % |
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Learn moreSources and references
You can check the following sources for additional information.
OMIM ORPHANET Rare Disease Search EngineIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED 3; SMAX3 MONILETHRIX; MNLIX